Neurofibromatosis and Orthodontics UK

What is neurofibromatosis type 1 (NF1)?

Neurofibromatosis type 1 is an autosomal dominant genetic condition caused by mutations in the NF1 gene on chromosome 17. It affects approximately 1 in 3,000 people in the UK and is characterised by café-au-lait macules (flat, pale brown skin patches), cutaneous neurofibromas (benign peripheral nerve tumours), axillary or inguinal freckling, and Lisch nodules of the iris. NF1 can also cause learning difficulties, scoliosis, plexiform neurofibromas, and bone dysplasia affecting the facial skeleton. The NHS NF1 pathway in the UK involves specialist multidisciplinary teams at regional centres, and dental and orthodontic needs may be managed as part of this coordinated approach.

How do café-au-lait macules relate to NF1 and dental assessment?

Café-au-lait macules are flat, evenly pigmented brown patches on the skin that are among the earliest and most consistent features of NF1. Having six or more café-au-lait spots of 1.5 cm or more in diameter in post-pubertal individuals is one of the diagnostic criteria for NF1. While café-au-lait macules do not affect the teeth or jaw directly, they are a visible marker of the underlying genetic condition that informs the level of medical and dental complexity a patient may have. Dental professionals should be aware that a patient presenting with multiple café-au-lait macules should be asked about their NF1 diagnosis and specialist team, as this influences the level of care coordination required.

How do plexiform neurofibromas affect the jaw and facial region?

Plexiform neurofibromas are diffuse tumours arising from multiple nerve fascicles and are among the most clinically significant complications of NF1. When they involve the trigeminal nerve branches — particularly the maxillary and mandibular divisions — they can infiltrate the soft tissues and bone of the face and jaw. Plexiform neurofibromas in the facial region can cause significant asymmetry, tissue overgrowth, displacement of the teeth and alveolus, and interference with normal dental development. They are generally not amenable to complete surgical removal because of their infiltrative nature and the risk of damaging the nerves they arise from. Orthodontic management in the presence of a facial plexiform neurofibroma requires coordination with the maxillofacial surgery team, and treatment must accommodate the tumour's impact on tissue architecture.

What skeletal involvement does NF1 cause in the face and jaw?

NF1 is associated with several forms of skeletal dysplasia that can involve the craniofacial skeleton. Sphenoid wing dysplasia — absence or underdevelopment of the greater wing of the sphenoid bone — is a characteristic finding on imaging in some NF1 patients and can be associated with pulsatile proptosis of the eye (due to direct contact between the brain and the orbital fat) and orbital asymmetry. Mandibular dysplasia can occur independently of plexiform neurofibroma involvement, producing jaw asymmetry, condylar irregularity, and altered occlusal relationships. Long bone pseudarthrosis — most commonly affecting the tibia — is also seen in NF1, and similar fibrous dysplasia-like changes have been described in the jaws. These skeletal abnormalities complicate orthodontic treatment planning and may require surgical input before or alongside orthodontics.

What treatment challenges arise in NF1 orthodontic care?

Orthodontic treatment for patients with NF1 often requires more appointments, longer treatment timescales, and more frequent monitoring than standard orthodontic cases. Asymmetric jaw growth due to NF1 skeletal involvement may mean that tooth positions change during treatment as the jaw continues to develop differently on each side. Plexiform neurofibromas near the dental arch complicate appliance placement and may make traditional bonding of brackets onto certain teeth impractical. Healing and tissue response may be affected if the patient is receiving medical treatment for their NF1, including MEK inhibitor therapy (such as selumetinib, which is now approved in the UK for certain NF1 patients with plexiform neurofibromas). Medication interactions with local anaesthetics and sedation agents should be discussed with the patient's medical team before any dental procedure.

What is the NHS pathway for complex NF1 dental and orthodontic needs?

In the UK, patients with NF1 are typically managed through specialist NF1 clinics at regional centres, which include paediatric neurology, clinical genetics, dermatology, and ophthalmology. Dental and orthodontic needs may be coordinated through the regional maxillofacial unit or hospital dental department. Patients with significant jaw or facial involvement from NF1 are referred to consultant orthodontists and oral and maxillofacial surgeons, often as part of a combined clinic. NHS funding for orthodontic treatment follows the same IOTN criteria as for other patients, but the complexity of care usually means treatment is delivered in a hospital or community dental service setting rather than a primary care specialist practice.

What should NF1 patients tell their orthodontist?

NF1 patients attending an orthodontic consultation should bring information about their specialist team, including the name and contact details of their NF1 clinic consultant. They should disclose any medications they are taking, particularly MEK inhibitors or other systemic treatments, and any recent imaging of the face or jaw. They should explain the location and extent of any plexiform neurofibromas, particularly if these are near the face, jaw, or oral cavity. Any history of surgical procedures to the jaw or face should be disclosed, along with any learning or communication support needs that may affect appointment planning and consent. Early communication of these details allows the orthodontist to plan appointments and consult with the NF1 specialist team before treatment begins.

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This guide is for general information only. It is not a diagnosis, treatment plan, or substitute for advice from a registered dentist or orthodontist.